Small variant benchmark from a complete assembly of X and Y chromosomes.

The sex chromosomes contain complex, important genes impacting medical phenotypes, but differ from the autosomes in their ploidy and large repetitive regions. To enable technology developers along with research and clinical laboratories to evaluate variant detection on male sex chromosomes X and Y, we create a small variant benchmark set with 111,725 variants for the Genome in a Bottle HG002 reference material. We develop an active evaluation approach to demonstrate the benchmark set reliably identifies errors in challenging genomic regions and across short and long read callsets.

Doxycycline post-exposure prophylaxis for preventing bacterial sexually transmitted infections (STIs): Are clinical providers supportive?

Background: Bacterial sexually transmitted infections (STIs) continue to increase in the United States. Despite evidence of the effectiveness of doxycycline post-exposure prophylaxis (Doxy-PEP) to prevent STIs, little is known about providers' attitudes and willingness to implement Doxy-PEP.

Methods: An online questionnaire was sent to 575 clinical providers in New York State in September 2022.

Primary Care Screening for Nonalcoholic Fatty Liver Disease Among People With HIV in the United States: A Real-World Provider Survey.

Nonalcoholic fatty liver disease (NAFLD) is highly prevalent in people with HIV (PWH) and increases the risk of hepatic fibrosis and hepatocellular carcinoma. We sent an online survey to providers of the American Academy of HIV Medicine. Of respondents (n = 214, 8% response rate), 65% reported screening for NAFLD in PWH, with 28% routinely screening all patients.

Tenofovir-associated Fanconi syndrome in liver transplant recipients with hepatitis B: A retrospective case series.

Tenofovir-associated Fanconi syndrome (TAFS) is a proximal renal tubule disorder rarely reported in patients after liver transplantation (LT) for hepatitis B (HBV). In a retrospective review of 79 HBV-LT recipients, 8/66 (12.1%) on tenofovir post-LT developed TAFS.

Centering autonomy and choice to support oral PrEP utilization among people who inject drugs: qualitative lessons from HPTN 094 INTEGRA.

Background: Oral Pre-exposure prophylaxis (PrEP) is effective in preventing HIV transmission. However, despite high rates of HIV risk behaviors among people who inject drugs (PWID), this population remains underserved by current HIV prevention efforts in the United States. To address this challenge, we conducted an in-depth exploration of perspectives on using oral PrEP among PWID engaged in the HIV Prevention Trials Network (HPTN) 094 INTEGRA Study.

The Correlation between Age at Implant, Consistent Device Use, and Language Outcomes for Children Implanted under 18 Months.

Introduction: Research suggests deaf children who receive cochlear implants (CIs) at an early age can achieve age-appropriate language. Recent studies suggest age at full-time CI use is a better predictor of language outcomes than age at implant. The aim of this study was to investigate whether there are correlations between age at implantation, establishing consistent device use, and language outcomes in a cohort of young children in Aotearoa New Zealand.

Validation of Clinical Protocol of Astigmatism Induction in Pseudophakic Patients.

Purpose: Validate a novel approach for assessing residual astigmatism's impact on visual acuity in pseudophakic patients using defocus curves and spherical equivalent compensation.

Materials And Methods: Thirteen patients over 40 with cataracts and normal ophthalmological examinations were enrolled in a prospective, non-randomized cohort study. The defocus curve method was employed, wherein visual acuity was measured with spherical lenses ranging from -2.

Hierarchically conductive electrodes unlock stable and scalable CO electrolysis.

Electrochemical CO reduction has emerged as a promising CO utilization technology, with Gas Diffusion Electrodes becoming the predominant architecture to maximize performance. Such electrodes must maintain robust hydrophobicity to prevent flooding, while also ensuring high conductivity to minimize ohmic losses. Intrinsic material tradeoffs have led to two main architectures: carbon paper is highly conductive but floods easily; while expanded Polytetrafluoroethylene is flooding resistant but non-conductive, limiting electrode sizes to just 5 cm.

Predictors of mental well-being among family caregivers of adults with intellectual and developmental disabilities during COVID-19.

Background: Internationally, stresses related to the COVID-19 pandemic negatively affected the mental health of family caregivers of adults with intellectual and developmental disabilities (IDDs).

Aims: This cross-sectional study investigated demographic, situational and psychological variables associated with mental wellbeing among family caregivers of adults with IDDs during the COVID-19 pandemic.

Method: Baseline data from 202 family caregivers participating in virtual courses to support caregiver mental well-being were collected from October 2020 to June 2022 via online survey.

MASLD in persons with HIV is associated with high cardiometabolic risk as evidenced by altered advanced lipoprotein profiles and targeted metabolomics.

Background: Metabolic dysfunction associated steatotic liver disease (MASLD) is associated with increased cardiovascular disease (CVD) risk in persons with HIV (PWH). The lipidomic and metabolomic alterations contributing to this risk are poorly understood. We aimed to characterize the advanced lipoprotein and targeted metabolomic profiles in PWH and assess if the presence and severity of MASLD influence these profiles.

A Fundamental Difference in the Nature of Personal Values and Personality Traits Revealed Through Different Patterns of Stability Across Their Distributions.

Objective: Personal values and personality traits are both important aspects of personality, but much is still unknown about the fundamental differences between the constructs, including how their patterns of temporal stability compare. This paper investigated patterns of intra-individual stability in both values and traits.

Method: Quantile correlations were estimated between each of the 20 refined personal values and the same values 2 years later in a large longitudinal sample of Australian adults (N = 2875).

Muscle Quality and Physical Function in Men With and Without HIV.

Background: People with HIV (PWH) experience faster physical decline than those without HIV (PWoH), despite antiretroviral therapy. We compared skeletal muscle density and area and their relationship with physical function among PWH and PWoH.

Methods: Quantitative computed tomography scans were performed at the L4-L5 spinal region and the thigh to evaluate muscle groups in Multicenter AIDS Cohort Study participants at baseline.

Relationships Between Hepatic Steatosis and Frailty Differ by HIV Serostatus.

Background: Frailty is associated with obesity-related comorbidities, but the relationship with nonalcoholic fatty liver disease (NAFLD) in people with HIV has been incompletely described. Our objective was to assess the associations between NAFLD and frailty.

Methods: Cross-sectional and longitudinal analysis of men in the Multicenter AIDS Cohort Study.

The impact of a virtual wellness course for adults with intellectual and developmental disabilities in the third year of COVID-19.

The current study examines how a virtual wellness intervention may improve health outcomes in adults with intellectual and developmental disabilities. Thirty-six adults with intellectual and developmental disabilities participated in the wellness intervention. Outcome measures related to satisfaction, mental health, wellbeing, health behaviours and overall health were completed at three time points (pre, post and follow-up).

Bridging the gap: national virtual education programme for professionals caring for adults with intellectual and developmental disabilities at the time of COVID-19.

Background: The COVID-19 pandemic significantly impacted the mental health of adults with intellectual and developmental disabilities (IDD). During this period of uncertainty and need for up-to-date information, various virtual training programmes demonstrated the role of tele-mentoring programmes.

Aim: The aim of this paper is to describe the educational evaluation of the National Extension for Community Healthcare Outcomes - Adults with Intellectual and Developmental Disabilities (ECHO-AIDD), a programme for service providers working with adults with IDD during COVID-19.

Effects of Semaglutide on Muscle Structure and Function in the SLIM LIVER Study.

Background: Semaglutide, a GLP-1 receptor agonist, is highly effective for decreasing weight. Concomitant loss of muscle mass often accompanies weight loss and may have consequences on muscle function.

Methods: This is a secondary analysis from the SLIM LIVER (ACTG A5371) study, a single-arm study of semaglutide in people with HIV (PWH) with metabolic dysfunction-associated steatotic liver disorder (MASLD).

Directing B7-H3 chimeric antigen receptor T cell homing through IL-8 induces potent antitumor activity against pediatric sarcoma.

Background: Advances in pediatric oncology have occurred for some cancers; however, new therapies for sarcoma have been inadequate. Cellular immunotherapy using chimeric antigen receptor (CAR) T cells has shown dramatic benefits in leukemia, lymphoma, and multiple myeloma but has been far less successful in pediatric solid tumors such as rhabdomyosarcoma (RMS) and osteosarcoma (OS). Balancing issues of "on-target, off-tumor toxicity", investigators have identified B7-H3 as a broadly expressed tumor antigen with otherwise restricted expression on normal tissues.

The impact of diabetes mellitus on HIV virologic control: results of the MACS/WIHS combined cohort study.

Objective: Diabetes mellitus (DM) is associated with lower antiretroviral (ART) drug exposure among persons with HIV (PWH) compared to PWH without DM. The association between DM and virologic control in PWH, however, remains unknown.

Methods: We included participants in the Multicenter AIDS Cohort Study/Women's Interagency HIV Study Combined Cohort Study (MWCCS) who had initiated ART between 1999 and 2020 and had a suppressed HIV viral load (≤200 copies/ml) within 1 year of ART initiation.